MCID: SPH010
MIFTS: 47

Sphingolipidosis

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 75 53 59 37 15
Sphingolipidoses 12 53 55 44 72

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1927
KEGG 37 H00423
MeSH 44 D013106
NCIt 50 C117254
SNOMED-CT 68 58459009
ICD10 33 E75.3
MESH via Orphanet 45 D013106
ICD10 via Orphanet 34 E75.0 E75.1 E75.2 more
UMLS via Orphanet 73 C0037899
Orphanet 59 ORPHA79225
UMLS 72 C0037899

Summaries for Sphingolipidosis

KEGG : 37
The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Glycerol and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are no effect and behavior/neurological

Disease Ontology : 12 A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

Wikipedia : 75 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main... more...

Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 33.5 PSAP GBA CHIT1 ARSA
2 metachromatic leukodystrophy 32.4 PSAP HEXA GALC ARSA
3 niemann-pick disease, type c1 31.4 SMPD1 PSAP NPC2 NPC1
4 gaucher disease, type i 31.3 PSAP HEXA GBA CHIT1
5 acid sphingomyelinase deficiency 31.1 SMPD1 NPC1
6 infantile krabbe disease 30.8 PSAP GALC
7 metachromatic leukodystrophy, juvenile form 30.7 PSAP ARSA
8 niemann-pick disease type c, juvenile neurologic onset 30.7 NPC2 NPC1
9 niemann-pick disease type c, adult neurologic onset 30.7 NPC2 NPC1
10 metachromatic leukodystrophy, late infantile form 30.7 PSAP ARSA
11 niemann-pick disease type c, severe early infantile neurologic onset 30.7 NPC2 NPC1
12 niemann-pick disease type c, late infantile neurologic onset 30.7 NPC2 NPC1
13 metachromatic leukodystrophy, adult form 30.7 PSAP ARSA
14 niemann-pick disease type c, severe perinatal form 30.7 NPC2 NPC1
15 gaucher disease, type ii 30.7 PSAP GBA
16 gaucher disease, perinatal lethal 30.6 HEXA GBA
17 cerebral lipidosis 30.6 HEXA GLB1
18 leukodystrophy 30.6 PSAP GALC ARSA
19 inherited metabolic disorder 30.3 NPC1 HEXA GLA GBA ARSA
20 niemann-pick disease, type c2 30.2 SMPD1 NPC2 NPC1
21 krabbe disease 30.2 PSAP GALC CHIT1 ARSA
22 niemann-pick disease, type a 30.2 SMPD1 NPC2 NPC1 CHIT1
23 niemann-pick disease 30.1 SMPD1 PSAP NPC2 NPC1 GBA CHIT1
24 niemann-pick disease, type b 30.0 SMPD1 NPC2 NPC1 HEXA
25 tay-sachs disease 29.3 PSAP HHEX HEXB HEXA GM2A GLB1
26 sandhoff disease 29.2 NPC1 HHEX HEXB HEXA GM2A
27 lysosomal storage disease 28.5 SMPD1 HEXB HEXA GLB1 GLA GBA
28 lipid storage disease 28.1 SMPD1 PSAP NPC2 NPC1 HEXA GLB1
29 sphingolipidosis with epilepsy 12.2
30 fabry disease 11.9
31 combined saposin deficiency 11.7
32 multiple sulfatase deficiency 11.5
33 sea-blue histiocyte disease 11.2
34 farber lipogranulomatosis 10.7
35 chitotriosidase deficiency 10.4 GBA CHIT1
36 glycoproteinosis 10.4 PSAP GLB1
37 gm1 gangliosidosis 10.3
38 gangliosidosis 10.3
39 inclusion-cell disease 10.3 PSAP GLB1 ARSA
40 neuraminidase deficiency 10.3 PSAP GLB1
41 scheie syndrome 10.2 HEXA GLB1 GLA
42 gaucher disease, type iii 10.1
43 leukodystrophy, hypomyelinating, 3 10.1
44 leukoencephalopathy with vanishing white matter 10.1
45 leukodystrophy, hypomyelinating, 2 10.1
46 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1
47 gaucher disease, atypical, due to saposin c deficiency 10.1
48 leukodystrophy, hypomyelinating, 4 10.1
49 leukodystrophy, hypomyelinating, 6 10.1
50 leukodystrophy, hypomyelinating, 9 10.1

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis

Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 ADPRH ARSA ASAH2 BECN1 CHIT1 ETFA

MGI Mouse Phenotypes related to Sphingolipidosis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ARSA BECN1 GALC GBA GLA GLB1
2 homeostasis/metabolism MP:0005376 10.31 ARSA ASAH2 BECN1 GALC GBA GLA
3 cellular MP:0005384 10.29 BECN1 GALC GBA GLA GLB1 HEXB
4 growth/size/body region MP:0005378 10.29 BECN1 GALC GBA GLA GLB1 HEXA
5 immune system MP:0005387 10.25 ADPRH ARSA BECN1 CHIT1 GALC GBA
6 hematopoietic system MP:0005397 10.2 ARSA BECN1 GALC GBA GLB1 HEXB
7 mortality/aging MP:0010768 10.13 BECN1 GALC GBA GLA GLB1 HEXA
8 liver/biliary system MP:0005370 10.11 GALC GBA GLA GLB1 HEXA HEXB
9 endocrine/exocrine gland MP:0005379 10.1 BECN1 GBA HEXB HHEX NPC1 NPC2
10 nervous system MP:0003631 10.1 ARSA BECN1 GALC GBA GLA GLB1
11 renal/urinary system MP:0005367 9.7 GALC GLA GLB1 HEXA HEXB PSAP
12 respiratory system MP:0005388 9.5 GBA HHEX NPC1 NPC2 PSAP RAB8A
13 vision/eye MP:0005391 9.23 GALC GLA HEXA HEXB HHEX NPC1

Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
2
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
3
Calcium carbonate Approved, Investigational Phase 2 471-34-1
4
tannic acid Approved Phase 2 1401-55-4
5
Mesna Approved, Investigational Phase 2 3375-50-6 598
6
Mycophenolic acid Approved Phase 2 24280-93-1 446541
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
12
rituximab Approved Phase 2 174722-31-7 10201696
13
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
14
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Busulfan Approved, Investigational Phase 2 55-98-1 2478
18
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
19
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
21 Tocotrienol Investigational Phase 2 6829-55-6
22 Antacids Phase 2
23 Hormones Phase 2
24 Micronutrients Phase 2
25 Trace Elements Phase 2
26 Nutrients Phase 2
27 Anti-Ulcer Agents Phase 2
28 Calciferol Phase 2
29 Calcium, Dietary Phase 2
30 Bone Density Conservation Agents Phase 2
31 Anti-Infective Agents Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antifungal Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antitubercular Agents Phase 2
36 Cyclosporins Phase 2
37 Dermatologic Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Vitamins Phase 2
40 Tocotrienols Phase 2
41 Alpha-lipoic Acid Phase 2
42 Antilymphocyte Serum Phase 2
43 Tocopherols Phase 2
44 N-monoacetylcystine Phase 2
45 Thioctic Acid Phase 2
46 Antimetabolites Phase 2
47 Antimetabolites, Antineoplastic Phase 2
48 Immunologic Factors Phase 2
49 Immunosuppressive Agents Phase 2
50 Alkylating Agents Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
2 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
3 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
4 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
7 Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease Completed NCT00004294 Phase 1
8 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
9 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
10 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
11 A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease Completed NCT00351156
12 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
13 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
14 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Recruiting NCT03233841
15 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
16 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
17 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
18 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650
19 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

Genetic Tests for Sphingolipidosis

Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

41
Skin, Brain, Bone, T Cells, Testes, Liver, Bone Marrow

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show top 50) (show all 320)
# Title Authors PMID Year
1
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases. 9 38
19857976 2010
2
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. 9 38
15937950 2005
3
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 9 38
15146461 2004
4
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. 9 38
11934514 2002
5
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 9 38
11309366 2001
6
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 9 38
10679038 2000
7
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. 9 38
10491988 1999
8
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. 9 38
9225972 1997
9
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 9 38
9240741 1996
10
Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. 9 38
8101401 1993
11
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region. 9 38
1776640 1991
12
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. 38
31140649 2019
13
Emerging mechanisms of drug-induced phospholipidosis. 38
31408430 2019
14
Ceramide synthase inhibition by fumonisins: a perfect storm of perturbed sphingolipid metabolism, signaling, and disease. 38
31048407 2019
15
DEGS1 variant causes neurological disorder. 38
31186544 2019
16
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 38
30517686 2019
17
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. 38
31091195 2019
18
Inhibition of the IGF-1-PI3K-Akt-mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis. 38
31036560 2019
19
Fabry disease in cardiology practice: Literature review and expert point of view. 38
30826269 2019
20
ROS Scavenger, Ebselen, Has No Preventive Effect in New Hearing Loss Model Using a Cholesterol-Chelating Agent. 38
30727719 2019
21
Sphingolipids and neuronal degeneration in lysosomal storage disorders. 38
29959861 2019
22
Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development. 38
30781349 2019
23
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. 38
31150494 2019
24
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. 38
30274713 2019
25
Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. 38
30633777 2019
26
Sphingolipids in neurodegeneration (with focus on ceramide and S1P). 38
30287225 2018
27
Niemann-Pick type C disease: The atypical sphingolipidosis. 38
30205942 2018
28
Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. 38
30261790 2018
29
[Gaucher's disease - an overview about a sphingolipidosis]. 38
30468119 2018
30
[The basics of lysosomal storage diseases]. 38
30468118 2018
31
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. 38
30384423 2018
32
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. 38
29556840 2018
33
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 38
29290526 2018
34
Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. 38
29061473 2017
35
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. 38
28847675 2017
36
Recent advances and novel treatments for sphingolipidoses. 38
28857617 2017
37
Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals. 38
28373486 2017
38
Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases. 38
28389479 2017
39
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. 38
27533120 2017
40
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. 38
26990139 2017
41
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards. 38
28089753 2017
42
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 38
28165343 2017
43
Lipid glycosylation: a primer for histochemists and cell biologists. 38
27999995 2017
44
[Fabry disease]. 38
28104284 2017
45
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. 38
28749998 2017
46
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. 38
28168127 2017
47
Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe's disease. 38
27638582 2016
48
Port-to-port delivery: Mobilization of toxic sphingolipids via extracellular vesicles. 38
27638615 2016
49
Niemann-Pick type C: focus on the adolescent/adult onset form. 38
26998855 2016
50
Synaptic failure: The achilles tendon of sphingolipidoses. 38
27638588 2016

Variations for Sphingolipidosis

Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to KEGG:

37
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
2
Show member pathways
12.1 SMPD1 PSAP HEXB HEXA GM2A GLB1
3
Show member pathways
11.58 HEXB HEXA GLB1
4
Show member pathways
11.5 HEXB HEXA CHIT1
5 11.49 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
6
Show member pathways
11.15 HEXB HEXA GLA
7
Show member pathways
10.99 HEXB HEXA GLB1
8
Show member pathways
10.8 HEXB HEXA GLB1
9 10.71 HEXB HEXA GLB1 GBA
10
Show member pathways
10.62 NPC2 NPC1

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 SMPD1 PSAP NPC2 HEXB GLB1 GBA
2 endosome GO:0005768 9.83 SMPD1 RAB8A NPC1 BECN1 ARSA
3 lysosomal lumen GO:0043202 9.7 SMPD1 PSAP NPC2 HEXB HEXA GM2A
4 azurophil granule lumen GO:0035578 9.63 NPC2 HEXB GM2A GLB1 GLA ARSA
5 lysosome GO:0005764 9.44 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
6 azurophil granule GO:0042582 9.4 HEXB HEXA
7 extracellular region GO:0005576 10.06 SMPD1 PSAP NPC2 NPC1 HEXB GM2A
8 extracellular exosome GO:0070062 10.03 SMPD1 RAB8A PSAP NPC2 NPC1 HEXB

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.87 PSAP NPC2 NPC1 GM2A GBA GALC
2 neutrophil degranulation GO:0043312 9.86 PSAP NPC2 HEXB GM2A GLB1 GLA
3 carbohydrate metabolic process GO:0005975 9.8 HEXB HEXA GLB1 GLA CHIT1
4 autophagy GO:0006914 9.78 RAB8A NPC1 BECN1 ARSA
5 lipid transport GO:0006869 9.76 PSAP NPC2 NPC1 GM2A
6 cholesterol transport GO:0030301 9.61 NPC2 NPC1
7 ceramide biosynthetic process GO:0046513 9.61 SMPD1 GBA
8 positive regulation of protein dephosphorylation GO:0035307 9.6 SMPD1 GBA
9 low-density lipoprotein particle clearance GO:0034383 9.59 NPC2 NPC1
10 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
11 lipid storage GO:0019915 9.58 HEXB GM2A
12 hyaluronan catabolic process GO:0030214 9.57 HEXB HEXA
13 chondroitin sulfate catabolic process GO:0030207 9.56 HEXB HEXA
14 metabolic process GO:0008152 9.56 SMPD1 HEXB HEXA GLB1 GLA GBA
15 response to pH GO:0009268 9.55 GBA ARSA
16 sphingolipid metabolic process GO:0006665 9.55 PSAP GM2A GBA GALC ASAH2
17 oligosaccharide catabolic process GO:0009313 9.54 HEXB GM2A
18 keratan sulfate catabolic process GO:0042340 9.54 HEXB HEXA GLB1
19 sphingosine biosynthetic process GO:0046512 9.52 GBA ASAH2
20 intracellular cholesterol transport GO:0032367 9.51 NPC2 NPC1
21 ganglioside catabolic process GO:0006689 9.49 HEXB GM2A
22 termination of signal transduction GO:0023021 9.43 SMPD1 GBA
23 glycosphingolipid metabolic process GO:0006687 9.28 SMPD1 PSAP HEXB HEXA GM2A GLB1

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.91 PSAP HHEX HEXB GLB1 GLA BECN1
2 hydrolase activity GO:0016787 9.73 SMPD1 HEXB HEXA GM2A GLB1 GLA
3 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXB HEXA
4 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXB HEXA GM2A
5 beta-galactosidase activity GO:0004565 9.4 PSAP GLB1
6 galactoside binding GO:0016936 9.37 GLB1 GLA
7 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 HEXB GLA CHIT1
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXB HEXA
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 SMPD1 HEXB HEXA GLB1 GLA GBA

Sources for Sphingolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....